16 New or updated NGS panels

June 12, 2017- Connective Tissue Gene Tests (CTGT) is pleased to announce 16 New or updated NGS panels and tests

New Tests
Amyotrophic lateral sclerosis and related disorders NGS panel ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL12A1, COL6A3, COL6A2, COL6A1
Del Dup
NGS
Brittle cornea syndrome NGS panel PRDM5, ZNF469
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, ATP7A, TRPV4
Del Dup
NGS
Distal Myopathy ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, PRDM5, SLC39A13, ZNF469
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, ATP7A, PLOD1, PRDM5, SLC39A13, ZNF469
Del Dup
NGS
Ehlers-Danlos syndrome, periodontal type NGS panel C1R, C1S
Del Dup
NGS
Epidermolysis bullosa NGS panel CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, SERPINB8, TGM5, COL7A1
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, TGM1, TGM5
Del Dup
NGS
Mucopolysaccharidosis NGS panel ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Sanger
Del Dup
Snyder-Robinson mental retardation syndrome SMS
Del Dup
Sanger
Waardenburg syndrome NGS panel EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS

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